• The impact of gender, puberty, and pregnancy in patients with POLG disease 

      Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal; Samsonsen, Christian; Brodtkorb, Eylert; Ostergaard, Elsebet; de Coo, Rene; Pias-Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence (Journal article; Tidsskriftartikkel; Peer reviewed, 2020-09-18)
      <i>Objective</i> - To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known.<p> <p><i>Methods</i> - Clinical, laboratory, and genetic data were collected retrospectively from 155 patients with genetically confirmed POLG disease recruited from seven European countries. We used the available data to study the impact ...
    • Mental health and health related quality of life in mitochondrial POLG disease 

      Hikmat, Omar; Vederhus, Bente Johanne; Benestad, Merete Roineland; Engeset, Ida Malen E.; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal; Brodtkorb, Eylert; Elgen, Irene Bircow; Bindoff, Laurence (Journal article; Tidsskriftartikkel; Peer reviewed, 2020-09-23)
      We aimed to assess the impact of POLG disease on mental health and quality of life in 15 patients using the Symptom Checklist-90-R (SCL-90-R)and Short-Form 36 HealthSurvey (RAND-36). Wefound increased scores in all nine subscales of SCL-90-R, particularly phobic anxiety, depression and somatization. Further, patients reported considerably lower scores in all RAND-36 domains. This study revealed a ...